PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: Severe failure to thrive ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 0
dbSNP: rs61753219
rs61753219 		0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 0